Table 1.

Overview of clinical findings in RAX2-associated ARRP

	Age/sex	Age of onset	VA (OD/OS)	Goldmann visual field	Fundus imaging	OCT	ERG	Other findings
Patient I	37/F	Mid-30s	7/10–7/10	Restricted to central 10°	Pale optic disc, very narrow retinal vessels, peripheral pigmentation	Foveal island with photoreceptor sparing, loss of outer retinal layers outside	-	Mixed red/green blue/yellow color vision deficiency
Patient II	22/M	Childhood	8/10–7/10	Restricted to central 10°	Pale optic disc, narrowed retinal vasculature, limited intraretinal pigmentation	Foveal island with photoreceptor sparing, loss of outer retinal layers outside	Nondetectable rod and cone response, flat ERG	Moderate red/green color vision deficiency
Patient III	58/F	Mid-30s	4/10–4/10	Restricted to central 10°	Rose-colored optic disc, narrowed retinal vessels, rare bone spicule pigmentation	Preserved retinal layers in fovea, small intraretinal cystic changes perifoveal region	Nondetectable rod response, reduced cone response	Perifoveal ring of high density and reduced autofluorescence in the periphery
Patient IV	61/F	Mid-40s	NA–6/10	Restricted to central 10°	Pale optic disc, narrowed retinal vasculature, bone spicule pigmentation	Preserved outer retinal layers in macula, disruption of ellipsoid band nasally from foveola	Nondetectable rod response, preservation of cone response	Glaucoma and cataract; enucleation of right eye
Patient V	62/F	Mid-40s	1/10–7/10	Restricted to central 10°	Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation	Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery	–	Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula
Patient VI	52/M	Mid-40s	10/10–11/10	–	Pale optic disc, narrow retinal vessels, widespread bone spicule pigmentation	Preserved outer retinal structures in macula, loss of outer nuclear layer in periphery	–	Speckled hypoautofluorescence, central ring of hyperautofluorescence around the macula

Patient I is a 37-year-old Belgian female with simplex RP. She was diagnosed at the age of 34 and suffers from night blindness and a reduced visual field. Patient II was diagnosed with simplex RP in his mid-teens. Symptoms of night blindness started around the age of five. Patient III is a 58-year-old female patient of Italian origin whose family originates from a small village in southern Italy. She was diagnosed with simplex RP at the age of 35 years and reported onset of night blindness at the age of 51 years. The medical history did not reveal any systemic conditions and family history was negative. Patient IV is a 61-year-old Spanish female with a history of glaucoma and cataract, which resulted in the enucleation of the right eye in 2009. She was diagnosed with simplex RP at the age of 48 years, suffering from night blindness, constriction of the visual field, and loss of visual acuity. Her family originates from an endogamic village in the north of Spain. Patient V, a 60-year-old British female and her brother (patient VI) showed mild symptoms of RP starting from their mid-40s. Their parents are unrelated. Fundus autofluorescence images of all patients are provided in Supplementary Figure 1. ERG profiles of patients II, III, and IV are provided in Supplementary Figure 2.

ERG electroretinography, OCT optical coherence tomography, OD oculus dexter, OS oculus sinister, VA visual acuity.